Fetal hydrops

Gene: LBR

Green List (high evidence)

LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 13 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as green, and mode of inheritance complete.
Created: 19 Dec 2016, 11:41 a.m.
Comment on list classification: Updated rating from Red to Green: One green expert review. Plus >3 cases of LBR mutations in Greenberg dysplasia (OMIM:215140) in OMIM, which presents with Fetal hydrops. Plus confirmed DD gene for OMIM:215140.
Created: 19 Dec 2016, 11:41 a.m.
Comment on publications: Not included PMID:1118024 in the list, because this doesn't point to a related publication and may be a typo. PMID:3377005, PMID:12210303 and PMID:8213919 demonstrate a phenotype of Fetal hydrops in skeletal dysplasia.
Created: 16 Dec 2016, 11:52 a.m.
PMID:12618959 (Waterham et al., 2003) described a fetus, the product of a consanguineous Turkish marriage, with severe hydrops and a diagnosis of Greenberg dysplasia (OMIM:215140). Sequence analysis of the LBR gene identified a homozygous 7-bp substitution at nucleotide 1599 in exon 13, TCTTCTA-CTAGAAG, which resulted in a truncated protein.
Created: 16 Dec 2016, 11:46 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 16 Dec 2016, 11:38 a.m.
LBR is included in the gene panel for Fetal hydrops because mutations in LBR cause Greenberg dysplasia (GRBGD), which is characterized by a range of phenotypes including gross fetal hydrops.
Created: 10 Oct 2016, 9:53 a.m.

Diana Wellesley (nhs)

Green List (high evidence)

Very rare but clear association with hydrops
Created: 22 Nov 2016, 11:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Greenberg dysplasia aka hydrops-ectopic calcification-moth-eaten skeletal dysplasia OMIM 215140

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Greenberg skeletal dysplasia, 215140
  • hydrops-ectopic calcification-moth-eaten skeletal dysplasia
OMIM
600024
Clinvar variants
Variants in LBR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Dec 2016, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for LBR were set to 3377005; 12210303; 8213919

16 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for LBR was changed to BIALLELIC, autosomal or pseudoautosomal

16 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for LBR were set to Greenberg skeletal dysplasia, 215140; hydrops-ectopic calcification-moth-eaten skeletal dysplasia

10 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LBR was added to Fetal hydropspanel. Sources: Other

10 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LBR was created by rfoulger